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Incidence and predictors of anti-bradycardia pacing in patients with Anderson-Fabry disease.
- Published in:
- EP: Europace, 2011, v. 13, n. 12, p. 1781, doi. 10.1093/europace/eur267
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- Publication type:
- Article
Coombs-positive Paroxysmal Nocturnal Haemoglobinuria.
- Published in:
- Oxford Medical Case Reports, 2020, v. 20, n. 3, p. 1, doi. 10.1093/omcr/omz125
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- Publication type:
- Article
Maximum inspiratory pressure as a clinically meaningful trial endpoint for neuromuscular diseases: a comprehensive review of the literature.
- Published in:
- 2017
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- Publication type:
- journal article
Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0253-6
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- Publication type:
- Article
Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document.
- Published in:
- 2015
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- Publication type:
- journal article
Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies.
- Published in:
- 2012
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- Publication type:
- journal article
Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2c linical studies.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 91, doi. 10.1186/1750-1172-7-91
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- Publication type:
- Article
White matter integrity correlates with cognition and disease severity in Fabry disease.
- Published in:
- 2020
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- Publication type:
- journal article
Predicting the Development of Anti-Drug Antibodies against Recombinant alpha-Galactosidase A in Male Patients with Classical Fabry Disease.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 16, p. 5784, doi. 10.3390/ijms21165784
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- Publication type:
- Article
Pregnancy and associated events in women receiving enzyme replacement therapy for late-onset glycogen storage disease type II (Pompe disease).
- Published in:
- Journal of Obstetrics & Gynaecology Research, 2016, v. 42, n. 10, p. 1263, doi. 10.1111/jog.13055
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- Article
Outcome of pregnancies in women receiving velaglucerase alfa for Gaucher disease.
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- Journal of Obstetrics & Gynaecology Research, 2014, v. 40, n. 4, p. 968, doi. 10.1111/jog.12254
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- Publication type:
- Article
Safety of switching to Migalastat from enzyme replacement therapy in Fabry disease: Experience from the Phase 3 ATTRACT study.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1069, doi. 10.1002/ajmg.a.61105
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- Publication type:
- Article
Gaucher disease: outcome following total hip replacements and effect of enzyme replacement therapy in a cohort of UK patients.
- Published in:
- Hip International, 2011, v. 21, n. 6, p. 665, doi. 10.5301/HIP.2011.8826
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- Publication type:
- Article
A randomised controlled trial evaluating arrhythmia burden, risk of sudden cardiac death and stroke in patients with Fabry disease: the role of implantable loop recorders (RaILRoAD) compared with current standard practice.
- Published in:
- 2019
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- Publication type:
- journal article
Bortezomib consolidation post‐ASCT as frontline therapy for multiple myeloma deepens disease response and MRD‐negative rate whilst maintaining QOL and response to re‐treatment at relapse.
- Published in:
- British Journal of Haematology, 2019, v. 185, n. 5, p. 948, doi. 10.1111/bjh.15649
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- Publication type:
- Article
Abundant pseudo‐Gaucher cells result in delay in diagnosis of plasma cell myeloma.
- Published in:
- 2018
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- Publication type:
- Case Study
Gaucher disease: haematological presentations and complications.
- Published in:
- British Journal of Haematology, 2014, v. 165, n. 4, p. 427, doi. 10.1111/bjh.12804
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- Publication type:
- Article
Divalent cation-independent macrophage adhesion inhibited by monoclonal antibody to murine...
- Published in:
- Nature, 1993, v. 364, n. 6435, p. 343, doi. 10.1038/364343a0
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- Publication type:
- Article
Intravenous enzyme replacement therapy: better in home or hospital?
- Published in:
- British Journal of Nursing, 2006, v. 15, n. 6, p. 330, doi. 10.12968/bjon.2006.15.6.20681
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- Publication type:
- Article
Prevalence of CADASIL and Fabry Disease in a Cohort of MRI Defined Younger Onset Lacunar Stroke.
- Published in:
- PLoS ONE, 2015, v. 10, n. 8, p. 1, doi. 10.1371/journal.pone.0136352
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- Publication type:
- Article
Migalastat HCl Reduces Globotriaosylsphingosine (Lyso-Gb<sub>3</sub>) in Fabry Transgenic Mice and in the Plasma of Fabry Patients.
- Published in:
- PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0057631
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- Publication type:
- Article
A Distinct Urinary Biomarker Pattern Characteristic of Female Fabry Patients That Mirrors Response to Enzyme Replacement Therapy.
- Published in:
- PLoS ONE, 2011, v. 6, n. 6, p. 1, doi. 10.1371/journal.pone.0020534
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- Publication type:
- Article
Measuring disease activity and patient experience remotely using wearable technology and a mobile phone app: outcomes from a pilot study in Gaucher disease.
- Published in:
- 2019
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- Publication type:
- journal article
Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial.
- Published in:
- 2018
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- Publication type:
- journal article
Fabry disease and incidence of cancer.
- Published in:
- 2017
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- Publication type:
- journal article
A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease.
- Published in:
- 2017
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- Publication type:
- journal article
Twelve Years of the Gaucher Outcomes Survey (GOS): Insights, Achievements, and Lessons Learned from a Global Patient Registry.
- Published in:
- Journal of Clinical Medicine, 2024, v. 13, n. 12, p. 3588, doi. 10.3390/jcm13123588
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- Publication type:
- Article
Long-Term Treatment of Gaucher Disease with Velaglucerase Alfa in ERT-Naïve Patients from the Gaucher Outcome Survey (GOS) Registry.
- Published in:
- Journal of Clinical Medicine, 2024, v. 13, n. 10, p. 2782, doi. 10.3390/jcm13102782
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- Publication type:
- Article
Nebulized Recombinant Tissue Plasminogen Activator (rt-PA) for Acute COVID-19-Induced Respiratory Failure: An Exploratory Proof-of-Concept Trial.
- Published in:
- Journal of Clinical Medicine, 2023, v. 12, n. 18, p. 5848, doi. 10.3390/jcm12185848
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- Publication type:
- Article
Reply to Mistry et al. The Two Substrate Reduction Therapies for Type 1 Gaucher Disease Are Not Equivalent. Comment on "Hughes et al. Switching between Enzyme Replacement Therapies and Substrate Reduction Therapies in Patients with Gaucher Disease: Data from the Gaucher Outcome Survey (GOS). J. Clin. Med. 2022, 11 , 5158"
- Published in:
- Journal of Clinical Medicine, 2023, v. 12, n. 12, p. 4017, doi. 10.3390/jcm12124017
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- Publication type:
- Article
Switching between Enzyme Replacement Therapies and Substrate Reduction Therapies in Patients with Gaucher Disease: Data from the Gaucher Outcome Survey (GOS).
- Published in:
- Journal of Clinical Medicine, 2022, v. 11, n. 17, p. 5158, doi. 10.3390/jcm11175158
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- Publication type:
- Article
Impact of SARS‐CoV‐2 (COVID‐19) pandemic on patients with lysosomal storage disorders and restoration of services: experience from a specialist centre.
- Published in:
- Internal Medicine Journal, 2021, v. 51, n. 10, p. 1580, doi. 10.1111/imj.15473
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- Publication type:
- Article
Presenting signs and patient co‐variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED‐C) Delphi initiative.
- Published in:
- Internal Medicine Journal, 2019, v. 49, n. 5, p. 578, doi. 10.1111/imj.14156
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- Publication type:
- Article
Soluble mannose receptor: A potential biomarker in Gaucher disease.
- Published in:
- European Journal of Haematology, 2024, v. 112, n. 5, p. 794, doi. 10.1111/ejh.14171
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- Publication type:
- Article
Safety and efficacy of pegunigalsidase alfa in patients with Fabry disease who were previously treated with agalsidase alfa: results from BRIDGE, a phase 3 open-label study.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02937-6
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- Publication type:
- Article
Management of pain in Fabry disease in the UK clinical setting: consensus findings from an expert Delphi panel.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02796-1
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- Publication type:
- Article
Pregnancy outcome in women with Gaucher disease type 1 who had unplanned pregnancies during eliglustat clinical trials.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2021, v. 57, n. 1, p. 76, doi. 10.1002/jmd2.12172
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- Publication type:
- Article
Evolution of Prodromal Clinical Markers of Parkinson Disease in a GBA Mutation-Positive Cohort.
- Published in:
- JAMA Neurology, 2015, v. 72, n. 2, p. 201, doi. 10.1001/jamaneurol.2014.2950
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- Publication type:
- Article
Cytomegalovirus reactivation after bortezomib treatment for multiple myeloma and light chain amyloidosis.
- Published in:
- European Journal of Haematology, 2020, v. 104, n. 3, p. 230, doi. 10.1111/ejh.13366
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- Publication type:
- Article
Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Do clinical guidelines facilitate or impede drivers of treatment in Fabry disease?
- Published in:
- 2022
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- Publication type:
- journal article
Development and validation of Gaucher disease type 1 (GD1)-specific patient-reported outcome measures (PROMs) for clinical monitoring and for clinical trials.
- Published in:
- 2022
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- Publication type:
- journal article
Cardiac device implantation and device usage in Fabry and hypertrophic cardiomyopathy.
- Published in:
- Orphanet Journal of Rare Diseases, 2022, v. 17, n. 1, p. 1, doi. 10.1186/s13023-021-02133-4
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- Publication type:
- Article
In-depth phenotyping for clinical stratification of Gaucher disease.
- Published in:
- 2021
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- Publication type:
- journal article
Visual short-term memory deficits associated with GBA mutation and Parkinson's disease.
- Published in:
- 2014
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- Publication type:
- journal article
Visual short-term memory deficits associated with GBA mutation and Parkinson’s disease.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 8, p. 2303, doi. 10.1093/brain/awu143
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- Publication type:
- Article
Bone Disease in Patients with Gaucher Disease and Therapeutic Outcomes on Enzyme Replacement.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2011, v. 9, n. 2, p. 37
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- Publication type:
- Article
An expert consensus document on the management of cardiovascular manifestations of Fabry disease.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Impact of long-term elosulfase alfa treatment on clinical and patient-reported outcomes in patients with mucopolysaccharidosis type IVA: results from a Managed Access Agreement in England.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Oral treatment for mucopolysaccharidosis VI: Outcomes of the first phase IIa study with odiparcil.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 340, doi. 10.1002/jimd.12467
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- Publication type:
- Article